Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,090,358 (GRCm39) |
S364P |
possibly damaging |
Het |
Abcc2 |
T |
A |
19: 43,787,577 (GRCm39) |
Y208N |
probably damaging |
Het |
Acy1 |
A |
T |
9: 106,313,913 (GRCm39) |
D82E |
probably damaging |
Het |
Ankub1 |
A |
G |
3: 57,597,802 (GRCm39) |
L56P |
probably damaging |
Het |
Aoc1 |
T |
A |
6: 48,885,529 (GRCm39) |
F678Y |
probably damaging |
Het |
Asxl3 |
C |
A |
18: 22,657,101 (GRCm39) |
Q1704K |
probably damaging |
Het |
Atg9b |
T |
C |
5: 24,595,571 (GRCm39) |
D236G |
probably damaging |
Het |
Auh |
A |
T |
13: 52,993,631 (GRCm39) |
M261K |
probably benign |
Het |
C2cd6 |
A |
T |
1: 59,099,825 (GRCm39) |
M372K |
possibly damaging |
Het |
Ccdc88b |
A |
T |
19: 6,825,090 (GRCm39) |
N1287K |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,229,073 (GRCm39) |
S958P |
probably benign |
Het |
Cgn |
T |
A |
3: 94,680,810 (GRCm39) |
Q576L |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,854,692 (GRCm39) |
M2011K |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,529,820 (GRCm39) |
E676G |
probably benign |
Het |
Cspp1 |
A |
T |
1: 10,183,139 (GRCm39) |
E781D |
possibly damaging |
Het |
Cyb5d2 |
A |
C |
11: 72,679,901 (GRCm39) |
|
probably null |
Het |
Epn3 |
G |
T |
11: 94,383,220 (GRCm39) |
P335T |
possibly damaging |
Het |
Far2 |
T |
A |
6: 148,047,629 (GRCm39) |
S103T |
probably benign |
Het |
Fhip1a |
G |
C |
3: 85,580,097 (GRCm39) |
Q703E |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,162,751 (GRCm39) |
S255P |
probably damaging |
Het |
Fmnl2 |
T |
A |
2: 52,932,321 (GRCm39) |
V100D |
|
Het |
Gabbr1 |
T |
C |
17: 37,382,749 (GRCm39) |
L814P |
probably damaging |
Het |
Gzmg |
C |
T |
14: 56,394,193 (GRCm39) |
V234I |
probably benign |
Het |
Ift172 |
A |
G |
5: 31,415,207 (GRCm39) |
V1334A |
probably benign |
Het |
Itga8 |
C |
G |
2: 12,187,495 (GRCm39) |
G728A |
probably damaging |
Het |
Klrg1 |
T |
C |
6: 122,255,193 (GRCm39) |
T80A |
probably benign |
Het |
Lrp4 |
A |
G |
2: 91,308,043 (GRCm39) |
N496S |
probably benign |
Het |
Lsmem1 |
G |
T |
12: 40,227,145 (GRCm39) |
N113K |
probably damaging |
Het |
Map3k2 |
G |
A |
18: 32,345,117 (GRCm39) |
S314N |
probably damaging |
Het |
Mtpap |
C |
T |
18: 4,387,032 (GRCm39) |
R361* |
probably null |
Het |
Muc5b |
T |
A |
7: 141,418,831 (GRCm39) |
S3926T |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,561,752 (GRCm39) |
R643L |
probably damaging |
Het |
Ncbp3 |
T |
C |
11: 72,938,808 (GRCm39) |
V28A |
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,257,984 (GRCm39) |
L534P |
possibly damaging |
Het |
Nmi |
T |
C |
2: 51,848,974 (GRCm39) |
K39E |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,692 (GRCm39) |
N260D |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,166,318 (GRCm39) |
Y35C |
probably damaging |
Het |
Or51aa2 |
C |
A |
7: 103,187,965 (GRCm39) |
V159L |
probably benign |
Het |
Or6c213 |
T |
A |
10: 129,573,926 (GRCm39) |
I287F |
probably damaging |
Het |
Or8c19-ps1 |
G |
A |
9: 38,220,600 (GRCm39) |
A170T |
unknown |
Het |
Pirb |
G |
T |
7: 3,720,728 (GRCm39) |
L257M |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,306,585 (GRCm39) |
D313V |
possibly damaging |
Het |
Ppard |
G |
A |
17: 28,517,864 (GRCm39) |
V311I |
possibly damaging |
Het |
Ptcd1 |
A |
T |
5: 145,092,175 (GRCm39) |
M308K |
probably damaging |
Het |
Pygo1 |
A |
G |
9: 72,852,436 (GRCm39) |
N208D |
possibly damaging |
Het |
Robo1 |
T |
G |
16: 72,832,719 (GRCm39) |
D1497E |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,730,169 (GRCm39) |
D1022G |
probably damaging |
Het |
Shc3 |
G |
A |
13: 51,615,475 (GRCm39) |
H161Y |
probably damaging |
Het |
Slc15a1 |
G |
T |
14: 121,724,423 (GRCm39) |
Q150K |
probably damaging |
Het |
Sod1 |
T |
G |
16: 90,023,039 (GRCm39) |
V120G |
probably damaging |
Het |
Spata31g1 |
T |
C |
4: 42,971,087 (GRCm39) |
L140P |
probably damaging |
Het |
Sprr2f |
T |
A |
3: 92,273,323 (GRCm39) |
C41S |
unknown |
Het |
Svil |
A |
T |
18: 5,049,068 (GRCm39) |
Y115F |
probably damaging |
Het |
Tdp1 |
T |
C |
12: 99,877,917 (GRCm39) |
S400P |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,898,030 (GRCm39) |
D596E |
probably damaging |
Het |
Tshz1 |
T |
A |
18: 84,033,101 (GRCm39) |
M436L |
possibly damaging |
Het |
Ube3c |
C |
T |
5: 29,812,029 (GRCm39) |
T423I |
probably benign |
Het |
Unc93a |
A |
T |
17: 13,341,837 (GRCm39) |
I98N |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,085,213 (GRCm39) |
Y624* |
probably null |
Het |
Vmn1r217 |
T |
A |
13: 23,298,108 (GRCm39) |
M265L |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,416,418 (GRCm39) |
M265K |
probably benign |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Zfp867 |
A |
G |
11: 59,354,837 (GRCm39) |
F164S |
probably damaging |
Het |
Zswim1 |
C |
T |
2: 164,668,062 (GRCm39) |
T438I |
probably benign |
Het |
|
Other mutations in Blm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
R0972:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2014:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|